Haplogroup R (Y-DNA)

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For the mitochondrial DNA haplogroup, see Haplogroup R (mtDNA).
Haplogroup R
Possible time of origin about 27,000 years BP[1] [2]
Possible place of origin Central Asia, South Asia or Siberia.
Ancestor P1 (P-M45), the only primary clade of P* (P-P295)
Descendants R1 (R-M173), R2 (R-M479) (R2)
Defining mutations M207/Page37/UTY2, CTS207/M600/PF5992, CTS2426/M661/PF6033, CTS2913/M667, CTS3229/M672/PF6036/YSC0001265, CTS3622/PF6037, CTS5815/M696, CTS6417/Y480, CTS7876/PF6052, CTS7880/M725/PF6053, CTS8311/M732, CTS9005/M741, CTS10663/M788, CTS11075/M795/P6078, CTS11647/Y369, F33/M603/PF6013, F63/M614/PF6016, F82/M620, F154/M636, F295/M685, F356/M703/PF5919, F370/M708/Y479, F459/Y482, F652/M805, F765, FGC1168, L248.3/M705.3, L747/M702/PF5918/YSC0000287, L760/M642/PF5877/YSC0000286, L1225/M789/YSC0000232, L1347/M792/PF6077/YSC0000233, M613, M628/PF5868, M651/Y296, M718, M734/PF6057/S4/YSC0000201, M760/Y506, M764/PF5953, M799, P224/PF6050, P227, P229/PF6019, P232, P280, P285, PF5938, PF6014/S9 (ISOGG 2016)

Haplogroup R or R-M207, is a Y-chromosome DNA haplogroup. It is both numerous and widespread amongst modern populations.

Some descendant subclades are common throughout Europe, Central Asia and South Asia, and also common in parts of the West Asia, Africa and North America. Others are primarily from West Asia and South Asia.

Karafet et al (2014) and other researchers state that a "rapid diversification ... of K-M526 ... likely occurred in Southeast Asia" and was followed by the relatively rapid "westward expansion" of Haplogroup P-M45 (P1) – the immediate ancestor of both Haplogroups Q and R.[3] [4]

Origins[edit]

Haplogroup P1 (P-M45), the immediate ancestor of Haplogroup R, likely emerged in Southeast Asia.[3] The SNP M207, which defines Haplogroup R, is believed to have arisen during the Upper Paleolithic era, about 27,000 years ago.[2][1]

Only one confirmed example of basal R* has been found, in 24,000 year old remains, known as MA-1, found at Mal'ta near Lake Baikal in Siberia.[2] While a living example of R-M207(xM17,M124) was reported in 2012, the sample of 158 ethnic Tajik males from Badakshan, Afghanistan were not tested for the SNP M478; the male concerned may therefore belong to R2*.

Despite the rarity of R*, the relatively rapid expansion – geographically and numerically – of subclades from R1 in particular, has often been noted: "both R1a and R1b comprise young, star-like expansions" (Karafet 2008).

The wide geographical distribution of R1b, in particular, has also been noted. Hallast et al. (2014) mentioned that living examples found in Central Asia included:

  • the "deepest subclade" of R-M269 (R1b1a1a2) – the most numerous branch of R1b in Western Europe, and;
  • the rare subclade R-PH155 (R1b1b) found only in one Bhutanese individual and one Tajik.

While Hallast et al. suggested that R-PH155 was "almost as old as the R1a/R1b split".[5] However, R-PH155 was later discovered to be derived from the mostly West Eurasian subclade R-L278 (R1b1).

Distribution[edit]

Y-haplogroup R-M207 is common throughout Europe, South Asia and Central Asia (Kayser 2003). It also occurs in the Caucasus and Siberia. Some minorities in Africa also carry subclades of R-M207 at high frequencies.

While some indigenous peoples of The Americas and Australasia also feature high levels of R-M207, it is unclear whether these are deep-rooted, or an effect of European colonisation during the early modern era.

Subclades[edit]

Human Y-DNA Phylogenetic Tree
Haplogroup R
M207 (R)
M173 (R1)
M420 (R1a)
M459

(R1a1)



(R1a*)



M343 (R1b)
L278

(R1b1)



(R1b*)




M479 (R2)
M124 (R2a)
L263

(R2a1)


F1092

(R2a2)


Y12100

(R2a3)




(R2*)







Paragroup R-M207[edit]

Haplogroup R* Y-DNA (xR1,R2) was found in 24,000-year-old remains from Mal'ta in Siberia near Lake Baikal.[6]

R1(R-M173)[edit]

R-M173 was historically known as R1 and has been common throughout Europe and South Asia since pre-history. It has many branches (Semino 2000 and Rosser 2000).

It is the second most common haplogroup in Indigenous peoples of the Americas following haplogroup Q-M242, especially in the Algonquian peoples of Canada and the United States (Malhi 2008). The origin of R-M173 among Native Americans is a matter of controversy:

  • some scholars claim that this is partly or wholly the result of colonial-era immigration from Europe, and not a pre-Columbian founding lineage (see e.g. Malhi 2008);
  • other authorities point to the greater similarity of many R-M173 subclades found in North America to those found in Siberia (e.g. Lell 2002 and Raghavan 2013), suggesting prehistoric immigration from Asia and/or Beringia.

R2(R-M479)[edit]

Main article: Haplogroup R-M479

Haplogroup R-M479 is defined by the presence of the marker M479. The paragroup for the R-M479 lineage is found predominantly in South Asia, although deep-rooted examples have also been found among Portuguese, Spanish, Tatar (Bashkortostan, Russia), and Ossetian (Caucasus) populations (Myres 2010).

See also[edit]

Genetics[edit]

Y-DNA R-M207 subclades[edit]

Y-DNA backbone tree[edit]

Phylogenetic tree of human Y-chromosome DNA haplogroups [χ 1][χ 2]
"Y-chromosomal Adam"
A00 A0-T [χ 3]
A0 A1 [χ 4]
A1a A1b
A1b1 BT
B CT
DE CF
D E C F
F1  F2  F3  GHIJK
G HIJK
IJK H
IJ   K
I J    LT [χ 5]  K2
L T [χ 6] K2a [χ 7] K2b [χ 8]     K2c  K2d  K2e [χ 9]
NO  K2a1 K2b1 [χ 10]     P [χ 11]
NO1   S [χ 12]   M [χ 13] P1 P2
N   O Q   R
  1. ^ Van Oven M, Van Geystelen A, Kayser M, Decorte R, Larmuseau HD (2014). "Seeing the wood for the trees: a minimal reference phylogeny for the human Y chromosome". Human Mutation. 35 (2): 187–91. doi:10.1002/humu.22468. PMID 24166809. 
  2. ^ International Society of Genetic Genealogy (ISOGG; 2015), Y-DNA Haplogroup Tree 2015. (Access date: 1 February 2015.)
  3. ^ Haplogroup A0-T is also known as A0'1'2'3'4.
  4. ^ Haplogroup A1 is also known as A1'2'3'4.
  5. ^ Haplogroup LT (L298/P326) is also known as Haplogroup K1.
  6. ^ Between 2002 and 2008, Haplogroup T (M184) was known as "Haplogroup K2" – that name has since been re-assigned to K-M526, the sibling of Haplogroup LT.
  7. ^ Haplogroup K2a (M2308) and the new subclade K2a1 (M2313) were separated from Haplogroup NO (F549) in 2016. (This followed the publication of: G. David Poznik et al., 2016, "Punctuated bursts in human male demography inferred from 1,244 worldwide Y-chromosome sequences" Nature Genetics], no. 48, pp. 593–599.) In the past, other haplogroups, including NO1 (M214) and K2e had also been identified with the name "K2a".
  8. ^ Haplogroup K2b (M1221/P331/PF5911) is also known as Haplogroup MPS.
  9. ^ Haplogroup K2e (K-M147) was previously known as "Haplogroup X" and "K2a" (but is a sibling subclade of the present K2a).
  10. ^ Haplogroup K2b1 (P397/P399) is similar to the former Haplogroup MS, but has a broader and more complex internal structure.
  11. ^ Haplogroup P (P295) is also klnown as K2b2.
  12. ^ The name Haplogroup S, as of 2017 also known as K2b1a, was previously assigned to K2b1a4.
  13. ^ The name Haplogroup M, as of 2017 also known as K2b1b, was previously assigned to K2b1d.

References[edit]

  1. ^ a b ISOGG, Y-DNA Haplogroup R and its Subclades – 2016 (12 December 2016).
  2. ^ a b c Raghavan, M. et al. 2014. Upper Palaeolithic Siberian genome reveals dual ancestry of Native Americans, Nature, 505, 87–91.
  3. ^ a b Karafet, Tatiana; Mendez, Fernando; Sudoyo, Herawati (2014). "Improved phylogenetic resolution and rapid diversification of Y-chromosome haplogroup K-M526 in Southeast Asia". Nature. 23: 369–373. doi:10.1038/ejhg.2014.106. PMC 4326703Freely accessible. PMID 24896152. 
  4. ^ See also: Tumonggor, Karafet et al., 2014, "Isolation, contact and social behavior shaped genetic diversity in West Timor", Journal of Human Genetics Vol. 59, No. 9 (September), pp. 494–503, and; E. Heyer et al., 2013, "Genetic Diversity of Four Filipino Negrito Populations from Luzon: Comparison of Male and Female Effective Population Sizes and Differential Integration of Immigrants into Aeta and Agta Communities", Human Biology, Vol. 85, Iss. 1, p. 201
  5. ^ Hallast, Pille; Batini, Chiara; Zadik, Daniel (2014). "The Y-Chromosome Tree Bursts into Leaf: 13,000 High-Confidence SNPs Covering the Majority of Known Clades". Oxford Journals. 23: 369–73. doi:10.1038/ejhg.2014.106. PMC 4326703Freely accessible. PMID 24896152. 
  6. ^ Raghavan, Maanasa; Pontus Skoglund; Kelly E. Graf; Mait Metspalu; Anders Albrechtsen; Ida Moltke; Simon Rasmussen; Thomas W. Stafford Jr; Ludovic Orlando; Ene Metspalu; Monika Karmin; Kristiina Tambets; Siiri Rootsi; Reedik Mägi; Paula F. Campos; Elena Balanovska; Oleg Balanovsky; Elza Khusnutdinova; Sergey Litvinov; Ludmila P. Osipova; Sardana A. Fedorova; Mikhail I. Voevoda; Michael DeGiorgio; Thomas Sicheritz-Ponten; Søren Brunak; et al. (2 January 2014). "Upper Palaeolithic Siberian genome reveals dual ancestry of Native Americans". Nature. 505 (7481): 87–91. doi:10.1038/nature12736. PMC 4105016Freely accessible. PMID 24256729. 

Further reading[edit]

External links[edit]

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